Generation of the induced pluripotent stem cell line LEIi023-A from a rod-cone dystrophy patient carrying the dominant PRPF31 c.267del variant

Dan Zhang; Di Huang; Shang Chih Chen; Danial Roshandel; Tina M. Lamey; Jennifer A. Thompson; Terri L. McLaren; Fred K. Chen; Samuel McLenachan

doi:10.1016/j.scr.2025.103705

Generation of the induced pluripotent stem cell line LEIi023-A from a rod-cone dystrophy patient carrying the dominant PRPF31 c.267del variant

Dan Zhang
, Di Huang
, Shang Chih Chen
, Danial Roshandel
, Tina M. Lamey
, Jennifer A. Thompson
, Terri L. McLaren
, Fred K. Chen
, Samuel McLenachan

Centre for Ophthalmology and Visual Science (affiliated with the Lions Eye Institute)

Research output: Contribution to journal › Article › peer-review

Abstract

The human induced pluripotent stem cell line LEIi023-A was generated from a 51-year-old female patient with retinitis pigmentosa 11 (RP11) caused by a single nucleotide deletion in the PRPF31 gene, (NM 015629.3: c.267del, p.(Glu89Aspfs*11)). Reprogramming the patient dermal fibroblasts was performed using episomal plasmids expressing reprogramming factors: OCT4, SOX2, KLF4, LMYC, LIN28, p53 shRNA and miR-302/367. LEIi023-A displayed expression of pluripotent stem cell markers, a normal karyotype and capability for differentiation of the three germ layers and retinal pigment epithelial cells.

Original language	English
Article number	103705
Number of pages	5
Journal	Stem Cell Research
Volume	86
Early online date	11 Apr 2025
DOIs	https://doi.org/10.1016/j.scr.2025.103705
Publication status	Published - Aug 2025

Funding

Funders	Funder number
NHMRC National Health and Medical Research Council	1188694

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10.1016/j.scr.2025.103705Licence: CC BY-NC-ND

Cite this

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title = "Generation of the induced pluripotent stem cell line LEIi023-A from a rod-cone dystrophy patient carrying the dominant PRPF31 c.267del variant",

abstract = "The human induced pluripotent stem cell line LEIi023-A was generated from a 51-year-old female patient with retinitis pigmentosa 11 (RP11) caused by a single nucleotide deletion in the PRPF31 gene, (NM 015629.3: c.267del, p.(Glu89Aspfs*11)). Reprogramming the patient dermal fibroblasts was performed using episomal plasmids expressing reprogramming factors: OCT4, SOX2, KLF4, LMYC, LIN28, p53 shRNA and miR-302/367. LEIi023-A displayed expression of pluripotent stem cell markers, a normal karyotype and capability for differentiation of the three germ layers and retinal pigment epithelial cells.",

author = "Dan Zhang and Di Huang and Chen, \{Shang Chih\} and Danial Roshandel and Lamey, \{Tina M.\} and Thompson, \{Jennifer A.\} and McLaren, \{Terri L.\} and Chen, \{Fred K.\} and Samuel McLenachan",

note = "Publisher Copyright: {\textcopyright} 2025",

year = "2025",

month = aug,

doi = "10.1016/j.scr.2025.103705",

language = "English",

volume = "86",

journal = "Stem Cell Research",

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AU - Zhang, Dan

AU - Huang, Di

AU - Chen, Shang Chih

AU - Roshandel, Danial

AU - Lamey, Tina M.

AU - Thompson, Jennifer A.

AU - McLaren, Terri L.

AU - Chen, Fred K.

AU - McLenachan, Samuel

PY - 2025/8

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AB - The human induced pluripotent stem cell line LEIi023-A was generated from a 51-year-old female patient with retinitis pigmentosa 11 (RP11) caused by a single nucleotide deletion in the PRPF31 gene, (NM 015629.3: c.267del, p.(Glu89Aspfs*11)). Reprogramming the patient dermal fibroblasts was performed using episomal plasmids expressing reprogramming factors: OCT4, SOX2, KLF4, LMYC, LIN28, p53 shRNA and miR-302/367. LEIi023-A displayed expression of pluripotent stem cell markers, a normal karyotype and capability for differentiation of the three germ layers and retinal pigment epithelial cells.

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DO - 10.1016/j.scr.2025.103705

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JF - Stem Cell Research

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Generation of the induced pluripotent stem cell line LEIi023-A from a rod-cone dystrophy patient carrying the dominant PRPF31 c.267del variant

Abstract

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Accelerating the identification and treatment of splice-altering mutations underlying inherited retinal diseases

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Generation of the induced pluripotent stem cell line LEIi023-A from a rod-cone dystrophy patient carrying the dominant PRPF31 c.267del variant

Abstract

Funding

Access to Document

Other files and links

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Accelerating the identification and treatment of splice-altering mutations underlying inherited retinal diseases

Cite this